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ABCs

Monday 6 October 2003

In 2003, about 2000 different ABC proteins are known.

Classification

- ABCCs

- ABCAs

  • ABCA4

Function

- ion channels
- antigen presentation
- formation and excretion of bile
- trafficking and homeostasis of phospholipids and sterols
- development

Pathology

- ABCA1 : mutations in Tangier’s disease
- ABCA4 (ABCR) : mutations in Stargardt’s disease

- ABCC6 : mutations in pseudoxanthoma elasticum
- ABCC7 (CFTR) : mutations in cystic fibrosis
- ABCC8 (SUR1) : mutations in congenital hyperinsulinism

References

- Uitto J. The gene family of ABC transporters—novel mutations, new phenotypes. Trends Mol Med. 2005 Aug;11(8):341-3. PMID: 15996518